What is the definition of Treacher Collins Syndrome?

Treacher Collins syndrome is a genetic condition that leads to problems with the structure of the face. Most cases are not passed down through families.

What are the alternative names for Treacher Collins Syndrome?

Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome

What are the causes for Treacher Collins Syndrome?

Changes to one of three genes, TCOF1, POLR1C, or POLR1D, can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member.

This condition may vary in severity from generation to generation and from person to person.

What are the symptoms for Treacher Collins Syndrome?

Symptoms may include:

• Outer part of the ears are abnormal or almost completely missing
• Hearing loss
• Very small jaw (micrognathia)
• Very large mouth
• Defect in the lower eyelid (coloboma)
• Scalp hair that reaches to the cheeks
• Cleft palate

What are the current treatments for Treacher Collins Syndrome?

Hearing loss is treated to ensure better performance in school.

Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.

What are the support groups for Treacher Collins Syndrome?

FACES: The National Craniofacial Association -- www.faces-cranio.org/

What is the outlook (prognosis) for Treacher Collins Syndrome?

Children with this syndrome typically grow to become functioning adults of normal intelligence.

What are the possible complications for Treacher Collins Syndrome?

Complications may include:

• Feeding difficulty
• Speaking difficulty
• Communication problems
• Vision problems

When should I contact a medical professional for Treacher Collins Syndrome?

This condition is most often seen at birth.

Genetic counseling can help families understand the condition and how to care for the person.

How do I prevent Treacher Collins Syndrome?

Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

REFERENCES

Dhar V. Syndromes with oral manifestations. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 337.

Katsanis SH, Jabs EW. Treacher Collins syndrome. GeneReviews. 2012:8. PMID: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704. Updated September 27, 2018. Accessed July 31, 2019.

Posnick JC, Tiwana PS, Panchal NH. Treacher Collins syndrome: evaluation and treatment. In: Fonseca RJ, ed. Oral and Maxillofacial Surgery. 3rd ed. St Louis, MO: Elsevier; 2018:chap 40.